Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant

It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.

Detalles Bibliográficos
Autores principales: Troncoso, Mónica, Balut, Fernanda, Witting, Scarlet, Rubilar, Carla, Carrera, Jorge, Cartes, Fabiola, Herrera, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8133089/
https://www.ncbi.nlm.nih.gov/pubmed/34026180
http://dx.doi.org/10.1002/ccr3.4171
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author Troncoso, Mónica
Balut, Fernanda
Witting, Scarlet
Rubilar, Carla
Carrera, Jorge
Cartes, Fabiola
Herrera, Luisa
author_facet Troncoso, Mónica
Balut, Fernanda
Witting, Scarlet
Rubilar, Carla
Carrera, Jorge
Cartes, Fabiola
Herrera, Luisa
author_sort Troncoso, Mónica
collection PubMed
description It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
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spelling pubmed-81330892021-05-21 Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant Troncoso, Mónica Balut, Fernanda Witting, Scarlet Rubilar, Carla Carrera, Jorge Cartes, Fabiola Herrera, Luisa Clin Case Rep Case Reports It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy. John Wiley and Sons Inc. 2021-05-19 /pmc/articles/PMC8133089/ /pubmed/34026180 http://dx.doi.org/10.1002/ccr3.4171 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Troncoso, Mónica
Balut, Fernanda
Witting, Scarlet
Rubilar, Carla
Carrera, Jorge
Cartes, Fabiola
Herrera, Luisa
Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
title Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
title_full Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
title_fullStr Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
title_full_unstemmed Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
title_short Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
title_sort hypomyelination and congenital cataract: identification of a novel likely pathogenic c.414+1g>a in fam126a gene variant
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8133089/
https://www.ncbi.nlm.nih.gov/pubmed/34026180
http://dx.doi.org/10.1002/ccr3.4171
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